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Further Delineation of the Clinical Phenotype of Cerebellar Ataxia, Mental Retardation, and Disequilibrium Syndrome Type 4

BACKGROUND: Cerebellar ataxia, mental retardation, and disequilibrium syndrome (CAMRQ) is a heterogeneous group of genetic disorders that have been grouped by shared clinical features; all of these features are transmitted via an autosomal recessive mechanism. Four variants of this syndrome have bee...

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Detalles Bibliográficos
Autores principales: Alsahli, Saud, Alrifai, Muhammad Talal, Al Tala, Saeed, Mutairi, Fuad Al, Alfadhel, Majid
Formato: Online Artículo Texto
Lenguaje:English
Publicado: SAGE Publications 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5843099/
https://www.ncbi.nlm.nih.gov/pubmed/29531481
http://dx.doi.org/10.1177/1179573518759682